ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.11697A>C (p.Arg3899Ser) (rs561879014)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489317 SCV000576572 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing The R3871S variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed at a significant frequency inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). TheR3871S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure asthese residues differ in some properties. However, this substitution occurs at a position that is not conserved acrossspecies, and two of three in silico programs predict this variant likely does not alter the protein structure/function.

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